摘要
目的探讨恶性孤立性纤维性肿瘤(malignant solitary fibrous tumor,MSFT)的临床病理、免疫表型及分子遗传学特征。方法收集2018年7月至2020年12月郑州大学第一附属医院诊断的MSFT病例7例,并行免疫组织化学及RNA-based和DNA-based二代测序检测。结果7例患者中,男性5例,女性2例;中位年龄53岁(37~69岁);肿瘤原发于颅底2例,原发于小脑幕、顶枕叶、枕部、胸腔、臀部各1例;肿瘤最大径2.5~20.0 cm。镜下可见典型血管外皮瘤样结构,细胞密度丰富,呈梭形或卵圆形,异型性大,可见坏死和核分裂象(>4个/10 HPF),2例可见经典孤立性纤维性肿瘤形态与去分化区域并存。免疫组织化学结果显示CD34(6/7)、STAT6(7/7)、bcl-2(7/7)阳性表达,S-100蛋白(7/7)阴性表达,广谱细胞角蛋白或上皮细胞膜抗原均有不同程度的阳性表达,p53表现为突变型(3/7),Ki-67阳性指数均大于10%;7例均检测到NAB2-STAT6基因融合,其中4例还分别检测到ZNF415-FGFR1、COPG1-MET、IPO11-LRRC70;cRNA-PLAG1和Clorf198-CD274(PD-L1)基因融合,同时发现7例均存在NOTCH1基因突变,其中4例也存在TP53基因突变;7例TERT启动子突变结果均为阴性。结论MSFT较罕见,需与多种梭形细胞肿瘤鉴别,尤其当肿瘤表达上皮标志物时,易误诊为肉瘤样癌、滑膜肉瘤等,免疫组织化学及NAB2-STAT6融合基因分子检测具有重要的诊断价值;NOTCH1突变和TP53突变与MSFT的进展可能有关;部分病例存在FGFR1基因融合和MET基因融合,可能成为其潜在的治疗靶点。
Objective To explore the clinicopathological features,immunophenotype and molecular genetic characteristics of malignant solitary fibrous tumor(MSFT).Methods Seven cases of MSFT were collected from the First Affiliated Hospital of Zhengzhou University from July 2018 to December 2020.Immunohistochemistry,RNA-based NGS and DNA-based NGS were performed.Results Among the 7 patients,there were 5 males and 2 females with a median age of 53 years(37-69 years).Two tumors located at skull base,and one in the tentorium of cerebellum,parietal occipital region,occipital area,chest and buttock respectively.The maximum diameter of the tumor was 2.5-20.0 cm.Microscopically,typical hemangiopericomatoid structures were noted;the tumor was cellular,fusiform or oval,very pleomorphic,with necrosis and high mitotic figures(>4/10 HPF).In some cases,classical solitary fibrous tumor morphology and dedifferentiated region were observed.Immunohistochemically,the tumor was positive for CD34(6/7),STAT6(7/7),bcl-2(7/7),but negative for S-100(7/7);CKpan or EMA was positive to varying degrees;mutated p53 was noted(3/7);Ki-67 positive index was more than 10%.NAB2-STAT6 gene fusion was typically detected in all the 7 cases.In 4 cases,ZNF415-FGFR1,COPG1-MET,IPO11-LRRC70_ncRNA-PLAG1 and Clorf198-CD274(PD-L1)gene fusions were also detected.NOTCH1 mutation was found in 7 cases and TP53 mutation in 4 cases.TERT promoter mutations were not detected in all the cases.Conclusions MSFT is rare and needs to be differentiated from many other spindle cell tumors.Especially when tumors express epithelial markers,they are easily misdiagnosed as sarcomatoid carcinoma and synovial sarcoma,etc.Immunohistochemistry and molecular detection of NAB2-STAT6 gene fusion have important diagnostic values.NOTCH1 and TP53 mutations may be associated with the progression of MSFT.Some patients have FGFR1 gene fusion and MET gene fusion,which may be potential therapeutic targets.
作者
黄亚萍
王伟伟
李盼
赵雪琰
王蓓蓓
姜国忠
李文才
赵志华
Yaping Huang;Weiwei Wang;Pan Li;Xueyan Zhao;Beibei Wang;Guozhong Jiang;Wencai Li;Zhihua Zhao(Department of Pathology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)
出处
《中华病理学杂志》
CAS
CSCD
北大核心
2022年第6期518-523,共6页
Chinese Journal of Pathology
基金
河南省科技攻关项目(212102310122)。
关键词
软组织肿瘤
基因融合
诊断
鉴别
恶性孤立性纤维性肿瘤
Soft tissue neoplasms
Gene fusion
Diagnosis,differential
Malignant solitary fibrous tumor
